ClinVar Miner

Submissions for variant NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) (rs61752327)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196997 SCV000251960 uncertain significance not specified 2017-05-31 criteria provided, single submitter clinical testing The V182A missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is conservative in that both Valine and Alanine are uncharged, nonpolar amino acids. This change occurs at a position in the NUBPL protein that is conserved in mammals. In-silico analyses are not consistent in their predictions of whether or not V182A is damaging to the NUBPL protein. Therefore, based on the currently available information, it is unclear whether V182A is a disease-causing mutation or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV001094169 SCV000386539 uncertain significance Mitochondrial complex I deficiency, nuclear type 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000432198 SCV000511564 likely benign not provided 2016-09-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000432198 SCV000608697 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Invitae RCV000432198 SCV001028947 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000432198 SCV000802391 uncertain significance not provided 2016-02-23 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV000358282 SCV000840093 not provided Mitochondrial complex I deficiency no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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